Incidental Mutation 'R3701:Tmf1'
ID 258514
Institutional Source Beutler Lab
Gene Symbol Tmf1
Ensembl Gene ENSMUSG00000030059
Gene Name TATA element modulatory factor 1
Synonyms LOC232286, 7030402D04Rik
MMRRC Submission 040694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R3701 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 97129958-97156083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97149292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 485 (F485S)
Ref Sequence ENSEMBL: ENSMUSP00000120093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095664] [ENSMUST00000124173]
AlphaFold B9EKI3
Predicted Effect probably benign
Transcript: ENSMUST00000095664
AA Change: F485S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: F485S

DomainStartEndE-ValueType
low complexity region 111 122 N/A INTRINSIC
low complexity region 131 142 N/A INTRINSIC
low complexity region 194 211 N/A INTRINSIC
low complexity region 235 253 N/A INTRINSIC
low complexity region 261 276 N/A INTRINSIC
low complexity region 367 381 N/A INTRINSIC
low complexity region 410 426 N/A INTRINSIC
coiled coil region 443 536 N/A INTRINSIC
Pfam:TMF_DNA_bd 540 613 5e-24 PFAM
low complexity region 697 715 N/A INTRINSIC
low complexity region 719 732 N/A INTRINSIC
low complexity region 803 821 N/A INTRINSIC
coiled coil region 823 894 N/A INTRINSIC
low complexity region 923 937 N/A INTRINSIC
Pfam:TMF_TATA_bd 972 1085 1.5e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000124173
AA Change: F485S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059
AA Change: F485S

DomainStartEndE-ValueType
low complexity region 111 122 N/A INTRINSIC
low complexity region 131 142 N/A INTRINSIC
low complexity region 194 211 N/A INTRINSIC
low complexity region 235 253 N/A INTRINSIC
low complexity region 261 276 N/A INTRINSIC
low complexity region 367 381 N/A INTRINSIC
low complexity region 410 426 N/A INTRINSIC
coiled coil region 443 536 N/A INTRINSIC
Pfam:TMF_DNA_bd 540 613 1.4e-24 PFAM
low complexity region 697 715 N/A INTRINSIC
low complexity region 719 732 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204190
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (37/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with decreased testis weight, globozoospermia, absent acrosome, asthenozoospermia, and abnormal sperm midpiece morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A C 15: 74,416,864 (GRCm39) K757T probably damaging Het
Akr1c19 C T 13: 4,293,032 (GRCm39) R263C probably damaging Het
Asxl1 A G 2: 153,241,264 (GRCm39) T605A probably benign Het
Cacna1i A T 15: 80,265,272 (GRCm39) probably benign Het
Clip4 A G 17: 72,106,003 (GRCm39) D62G probably damaging Het
Cstf1 A G 2: 172,222,312 (GRCm39) T357A probably benign Het
Cul5 T C 9: 53,540,516 (GRCm39) K499E probably damaging Het
Cyld T A 8: 89,456,179 (GRCm39) S407T probably benign Het
Dnph1 G A 17: 46,809,637 (GRCm39) G101S possibly damaging Het
Entrep1 T C 19: 23,956,831 (GRCm39) E354G probably benign Het
Esp38 A T 17: 40,266,112 (GRCm39) R74* probably null Het
Fdxr A T 11: 115,160,527 (GRCm39) L336Q probably damaging Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itgb1bp2 T C X: 100,495,293 (GRCm39) probably benign Het
Kcnj5 T C 9: 32,229,124 (GRCm39) T25A possibly damaging Het
Lyn A G 4: 3,742,455 (GRCm39) H28R probably benign Het
Nbeal1 C T 1: 60,290,572 (GRCm39) probably benign Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Or14j3 G A 17: 37,900,717 (GRCm39) Q176* probably null Het
Or6c5c A T 10: 129,298,821 (GRCm39) Y92F probably damaging Het
Or9i14 T G 19: 13,792,712 (GRCm39) I81L probably benign Het
Pdgfra T A 5: 75,340,881 (GRCm39) Y613* probably null Het
Phka2 T C X: 159,316,045 (GRCm39) V230A possibly damaging Het
Pkd2l1 A G 19: 44,145,666 (GRCm39) S186P probably damaging Het
Skic3 T C 13: 76,261,798 (GRCm39) I171T probably benign Het
Snx14 T C 9: 88,302,296 (GRCm39) probably benign Het
Tex15 T C 8: 34,064,194 (GRCm39) V1208A probably benign Het
Tnfsf4 G A 1: 161,244,778 (GRCm39) V156I possibly damaging Het
Trdn C A 10: 33,210,980 (GRCm39) Q391K probably damaging Het
Ttc34 T C 4: 154,949,939 (GRCm39) F964S probably damaging Het
Vmn2r104 A G 17: 20,249,818 (GRCm39) S818P probably damaging Het
Zbed5 G A 5: 129,932,000 (GRCm39) D650N possibly damaging Het
Zfp446 G A 7: 12,712,079 (GRCm39) probably benign Het
Zfp592 C T 7: 80,687,159 (GRCm39) R821* probably null Het
Zfp647 G A 15: 76,795,110 (GRCm39) R517W probably damaging Het
Zfp983 G C 17: 21,880,455 (GRCm39) E128Q probably damaging Het
Other mutations in Tmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Tmf1 APN 6 97,153,455 (GRCm39) missense probably benign 0.00
IGL00846:Tmf1 APN 6 97,150,277 (GRCm39) missense possibly damaging 0.88
IGL01575:Tmf1 APN 6 97,152,897 (GRCm39) missense probably damaging 1.00
IGL01922:Tmf1 APN 6 97,153,891 (GRCm39) missense probably benign 0.00
IGL02550:Tmf1 APN 6 97,135,522 (GRCm39) missense probably benign 0.28
IGL02675:Tmf1 APN 6 97,141,003 (GRCm39) splice site probably benign
IGL02985:Tmf1 APN 6 97,153,770 (GRCm39) missense probably damaging 1.00
IGL03324:Tmf1 APN 6 97,140,614 (GRCm39) missense probably damaging 0.99
caddy UTSW 6 97,138,408 (GRCm39) nonsense probably null
R0028:Tmf1 UTSW 6 97,135,059 (GRCm39) missense probably damaging 1.00
R0153:Tmf1 UTSW 6 97,147,345 (GRCm39) missense probably damaging 0.97
R0325:Tmf1 UTSW 6 97,153,465 (GRCm39) missense possibly damaging 0.51
R0420:Tmf1 UTSW 6 97,153,102 (GRCm39) missense probably damaging 1.00
R0730:Tmf1 UTSW 6 97,153,453 (GRCm39) missense probably benign
R0825:Tmf1 UTSW 6 97,152,956 (GRCm39) missense probably benign
R0827:Tmf1 UTSW 6 97,135,011 (GRCm39) nonsense probably null
R0839:Tmf1 UTSW 6 97,153,284 (GRCm39) missense probably damaging 1.00
R1078:Tmf1 UTSW 6 97,150,261 (GRCm39) missense probably damaging 1.00
R1905:Tmf1 UTSW 6 97,138,440 (GRCm39) missense possibly damaging 0.53
R2274:Tmf1 UTSW 6 97,140,547 (GRCm39) missense probably damaging 1.00
R3953:Tmf1 UTSW 6 97,153,167 (GRCm39) missense probably damaging 0.99
R3955:Tmf1 UTSW 6 97,153,167 (GRCm39) missense probably damaging 0.99
R4398:Tmf1 UTSW 6 97,155,857 (GRCm39) missense probably damaging 0.99
R4416:Tmf1 UTSW 6 97,155,949 (GRCm39) missense probably damaging 1.00
R4497:Tmf1 UTSW 6 97,149,293 (GRCm39) missense probably benign 0.00
R4592:Tmf1 UTSW 6 97,150,361 (GRCm39) missense probably benign 0.00
R4669:Tmf1 UTSW 6 97,147,388 (GRCm39) missense probably benign 0.00
R5214:Tmf1 UTSW 6 97,144,253 (GRCm39) missense possibly damaging 0.81
R5352:Tmf1 UTSW 6 97,153,770 (GRCm39) missense probably damaging 1.00
R5530:Tmf1 UTSW 6 97,135,048 (GRCm39) missense probably damaging 1.00
R5815:Tmf1 UTSW 6 97,150,364 (GRCm39) missense probably benign 0.28
R6806:Tmf1 UTSW 6 97,138,408 (GRCm39) nonsense probably null
R6837:Tmf1 UTSW 6 97,153,542 (GRCm39) missense possibly damaging 0.76
R6853:Tmf1 UTSW 6 97,145,810 (GRCm39) missense probably damaging 0.99
R6887:Tmf1 UTSW 6 97,153,799 (GRCm39) missense probably damaging 1.00
R7058:Tmf1 UTSW 6 97,133,911 (GRCm39) missense probably damaging 1.00
R7145:Tmf1 UTSW 6 97,153,079 (GRCm39) missense probably damaging 1.00
R7340:Tmf1 UTSW 6 97,145,061 (GRCm39) missense possibly damaging 0.81
R7573:Tmf1 UTSW 6 97,135,455 (GRCm39) missense probably benign 0.14
R7809:Tmf1 UTSW 6 97,138,420 (GRCm39) missense probably damaging 0.99
R7833:Tmf1 UTSW 6 97,138,372 (GRCm39) missense probably benign 0.06
R8728:Tmf1 UTSW 6 97,133,821 (GRCm39) missense probably damaging 1.00
R9004:Tmf1 UTSW 6 97,152,738 (GRCm39) missense probably benign 0.14
R9425:Tmf1 UTSW 6 97,149,293 (GRCm39) missense probably benign 0.00
R9436:Tmf1 UTSW 6 97,153,617 (GRCm39) missense probably benign 0.05
R9454:Tmf1 UTSW 6 97,155,866 (GRCm39) missense probably benign 0.00
R9458:Tmf1 UTSW 6 97,153,382 (GRCm39) missense probably benign 0.00
R9490:Tmf1 UTSW 6 97,137,227 (GRCm39) missense probably benign 0.00
R9544:Tmf1 UTSW 6 97,147,293 (GRCm39) missense possibly damaging 0.92
R9558:Tmf1 UTSW 6 97,147,293 (GRCm39) missense possibly damaging 0.92
R9560:Tmf1 UTSW 6 97,147,293 (GRCm39) missense possibly damaging 0.92
R9595:Tmf1 UTSW 6 97,135,457 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTTCTAATACCAAAATCTGAGTTCAC -3'
(R):5'- CTGCACATCTAATATTTGAGGTTTCT -3'

Sequencing Primer
(F):5'- GAGTTCACTCACGGAACTCAACAG -3'
(R):5'- ATGCACAGCTCTGGGTTCAATC -3'
Posted On 2015-01-23